Linked Data
dbSNP Id:
rs751711670
ExAC:
8:10470429 TTCCCTGCA / T
gnomAD v2:
8-10470429-TTCCCTGCA-T
gnomAD v4:
8-10612919-TTCCCTGCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612924_10612931del , CM000670.2:g.10612924_10612931del | GRCh38 |
| NC_000008.10:g.10470434_10470441del , CM000670.1:g.10470434_10470441del | GRCh37 |
| NC_000008.9:g.10507844_10507851del | NCBI36 |
| NG_028035.1:g.47181_47188del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1171_1178del MANE Select | ENSP00000371923.3:p.Cys391SerfsTer13 | |
| ENST00000382483.3:c.1171_1178del | ENSP00000371923.3:p.Cys391SerfsTer13 | |
| NM_178857.5:c.1171_1178del | NP_849188.4:p.Cys391SerfsTer13 | |
| NM_178857.6:c.1171_1178del MANE Select | NP_849188.4:p.Cys391SerfsTer13 |